Variant report

Variant	rs1046587
Chromosome Location	chr14:24786060-24786061
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24785563..24788287-chr14:24805710..24808640,2	MCF-7	breast:
2	chr14:24654479..24657858-chr14:24783212..24786979,3	K562	blood:
3	chr14:24767097..24775014-chr14:24779936..24787049,14	MCF-7	breast:
4	chr14:24711592..24713123-chr14:24785220..24787593,2	K562	blood:
5	chr14:24781177..24783367-chr14:24784569..24786396,2	K562	blood:
6	chr14:24781460..24810019-chr14:24892340..24914262,110	MCF-7	breast:
7	chr14:24784144..24786069-chr14:24899565..24901293,2	K562	blood:
8	chr14:24784156..24786411-chr14:24902043..24903972,2	MCF-7	breast:
9	chr14:24785903..24787847-chr14:24833580..24835158,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000139899	Chromatin interaction
ENSG00000196943	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000213906	Chromatin interaction
ENSG00000196497	Chromatin interaction
ENSG00000100445	Chromatin interaction
ENSG00000258973	Chromatin interaction
ENSG00000092330	Chromatin interaction
ENSG00000213903	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000129465	Chromatin interaction
ENSG00000100968	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1051883	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12881984	0.84[EUR][1000 genomes]
rs12884896	0.87[EUR][1000 genomes]
rs12885593	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12887789	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12891757	0.87[EUR][1000 genomes]
rs12892146	0.87[EUR][1000 genomes]
rs12892419	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs12892579	1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap];0.87[EUR][1000 genomes]
rs12895335	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12895752	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.87[EUR][1000 genomes]
rs12896386	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[EUR][1000 genomes]
rs12896469	1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap];0.87[EUR][1000 genomes]
rs2295306	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2295307	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[EUR][1000 genomes]
rs3825586	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4982889	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4982890	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4982891	0.87[EUR][1000 genomes]
rs4982892	0.82[EUR][1000 genomes]
rs4982894	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7146665	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7400863	0.87[EUR][1000 genomes]
rs7401804	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs747060	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.87[EUR][1000 genomes]
rs8003991	0.89[EUR][1000 genomes]
rs941507	0.96[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv901499	chr14:24765622-24787588	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	n/a
4	nsv901500	chr14:24765622-24793762	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	n/a
5	nsv564058	chr14:24771285-24786976	Flanking Active TSS Strong transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	n/a
6	nsv901501	chr14:24771285-24793762	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	n/a
7	nsv564059	chr14:24776401-24796813	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv564060	chr14:24776401-24809795	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1046587	DHRS1	cis	Frontal Cortex	GTEx

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24776200-24786200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:24781200-24787200	Enhancers	HUVEC	blood vessel
3	chr14:24781400-24786200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr14:24781400-24786200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr14:24781400-24786800	Enhancers	Lung	lung
6	chr14:24781800-24787600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:24782400-24786800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:24782600-24786400	Weak transcription	HSMMtube	muscle
9	chr14:24783200-24786200	Enhancers	Right Ventricle	heart
10	chr14:24783200-24786400	Enhancers	Esophagus	oesophagus
11	chr14:24783200-24788000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr14:24783800-24786200	Enhancers	Left Ventricle	heart
13	chr14:24783800-24786400	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr14:24783800-24786400	Weak transcription	A549	lung
15	chr14:24784000-24786200	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr14:24784000-24787600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr14:24784200-24786200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr14:24784400-24786200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:24784400-24786200	Weak transcription	Liver	Liver
20	chr14:24784400-24787000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr14:24784600-24786200	Enhancers	NHEK	skin
22	chr14:24784600-24787200	Weak transcription	Primary T cells from cord blood	blood
23	chr14:24784600-24787200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr14:24784600-24787600	Enhancers	K562	blood
25	chr14:24784600-24796400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr14:24784800-24796600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr14:24785000-24786200	Enhancers	Right Atrium	heart
28	chr14:24785000-24786400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr14:24785000-24789000	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr14:24785200-24786200	Bivalent Enhancer	Fetal Intestine Large	intestine
31	chr14:24785200-24786200	Enhancers	Gastric	stomach
32	chr14:24785200-24786400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr14:24785200-24786600	Genic enhancers	Spleen	Spleen
34	chr14:24785200-24787200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr14:24785200-24787800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr14:24785200-24788800	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
37	chr14:24785400-24786200	Enhancers	Placenta	Placenta
38	chr14:24785400-24786200	Enhancers	Ovary	ovary
39	chr14:24785400-24786200	Enhancers	Pancreas	Pancrea
40	chr14:24785400-24786800	Enhancers	Placenta Amnion	Placenta Amnion
41	chr14:24785400-24787200	Enhancers	HMEC	breast
42	chr14:24785400-24788000	Enhancers	Primary B cells from cord blood	blood
43	chr14:24785600-24786200	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr14:24785600-24786400	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr14:24785600-24787200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr14:24785600-24787200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr14:24785600-24787800	Enhancers	Primary hematopoietic stem cells	blood
48	chr14:24785800-24786200	Enhancers	Duodenum Mucosa	Duodenum
49	chr14:24785800-24786200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
50	chr14:24785800-24786200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links